List of variants reported as uncertain significance for congenital myasthenic syndrome 3B

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)	rs142063328	0.00089
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)	rs201733876	0.00042
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys)	rs144063384	0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln)	rs143002322	0.00006
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)	rs145955590	0.00004
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)	rs563035306	0.00003
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr)	rs1553575390
NM_000751.3(CHRND):c.1441_1443del (p.Met481del)	rs2106215688
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn)	rs1691584182
NM_000751.3(CHRND):c.826G>A (p.Glu276Lys)
NM_000751.3(CHRND):c.961A>C (p.Thr321Pro)

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